ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	CD3E
Approved Name	CD3e molecule, epsilon (CD3-TCR complex)
Previous Name	CD3e antigen, epsilon polypeptide (TiT3 complex)
Location	11q23
Position	chr11:118175260-118186890, +
External Links	HGNC: 1674 Entrez Gene: 916 UCSC: uc001psq.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 34)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 34)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0050850	positive regulation of calcium-mediated signaling	Biological Process		7
GO:0031295	T cell costimulation	Biological Process		12
GO:0050776	regulation of immune response	Biological Process		9
GO:0030159	receptor signaling complex scaffold activity	Molecular Function	NAS[9886373]	8
GO:0032753	positive regulation of interleukin-4 production	Biological Process		2
GO:0050852	T cell receptor signaling pathway	Biological Process		21
GO:0032729	positive regulation of interferon-gamma production	Biological Process		9
GO:0042102	positive regulation of T cell proliferation	Biological Process	IMP[12110186]	11
GO:0042101	T cell receptor complex	Cellular Component	IDA[8176201]; NAS[9485181]	4
GO:0042110	T cell activation	Biological Process	NAS[12110186]	8
GO:0042105	alpha-beta T cell receptor complex	Cellular Component		3
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	Biological Process	TAS[8530500]	16
GO:0042981	regulation of apoptotic process	Biological Process	NAS[12567487]	32
GO:0007166	cell surface receptor signaling pathway	Biological Process	NAS[12110186]	35
GO:0042608	T cell receptor binding	Molecular Function	NAS[11186279]	2
GO:0045086	positive regulation of interleukin-2 biosynthetic process	Biological Process		1
GO:0007186	G-protein coupled receptor signaling pathway	Biological Process	TAS[8530500]	72
GO:0045060	negative thymic T cell selection	Biological Process		2
GO:0007172	signal complex assembly	Biological Process	TAS[8490660]	3
GO:0046641	positive regulation of alpha-beta T cell proliferation	Biological Process		3
GO:0009897	external side of plasma membrane	Cellular Component	IDA[17213291]	34
GO:0045879	negative regulation of smoothened signaling pathway	Biological Process		2
GO:0007584	response to nutrient	Biological Process		15
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	Biological Process		14
GO:0019901	protein kinase binding	Molecular Function	NAS[12110186]	51
GO:0046982	protein heterodimerization activity	Molecular Function	IPI[9485181]	68
GO:0017124	SH3 domain binding	Molecular Function	IPI[12110186]	22
GO:0001772	immunological synapse	Cellular Component		5
GO:0002669	positive regulation of T cell anergy	Biological Process		1
GO:0004888	transmembrane signaling receptor activity	Molecular Function	NAS[9485181]	20
GO:0005057	receptor signaling protein activity	Molecular Function	TAS[1370449]	9
GO:0005886	plasma membrane	Cellular Component	IDA[11390434]	772
GO:0005887	integral to plasma membrane	Cellular Component	NAS[9485181]	220
GO:0006461	protein complex assembly	Biological Process	NAS[9886373]	28

Gene related KEGG pathways (count: 5)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04640	Hematopoietic cell lineage	13	Blood-cell development progresses from a hematopoietic stem ...... Blood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid progenitor (CLP) or a common myeloid progenitor (CMP). A CLP gives rise to the lymphoid lineage of white blood cells or leukocytes-the natural killer (NK) cells and the T and B lymphocytes. A CMP gives rise to the myeloid lineage, which comprises the rest of the leukocytes, the erythrocytes (red blood cells), and the megakaryocytes that produce platelets important in blood clotting. Cells undergoing these differentiation process express a stage- and lineage-specific set of surface markers. Therefore cellular stages are identified by the specific expression patterns of these genes. More...
hsa05340	Primary immunodeficiency	5	Primary immunodeficiencies (PIs) are a heterogeneous group o...... Primary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells such as phagocytes and natural killer (NK) cells. These disorders of the immune system cause increased susceptibility to infection, autoimmune disease, and malignancy. Most of PIs are due to genetic defects that affect cell maturation or function at different levels during hematopoiesis. Disruption of the cellular immunity is observed in patients with defects in T cells or both T and B cells. These cellular immunodeficiencies comprise 20% of all PIs. Disorders of humoral immunity affect B-cell differentiation and antibody production. They account for 70% of all PIs. More...
hsa04660	T cell receptor signaling pathway	19	Activation of T lymphocytes is a key event for an efficient ...... Activation of T lymphocytes is a key event for an efficient response of the immune system. It requires the involvement of the T-cell receptor (TCR) as well as costimulatory molecules such as CD28. Engagement of these receptors through the interaction with a foreign antigen associated with major histocompatibility complex molecules and CD28 counter-receptors B7.1/B7.2, respectively, results in a series of signaling cascades. These cascades comprise an array of protein-tyrosine kinases, phosphatases, GTP-binding proteins and adaptor proteins that regulate generic and specialised functions, leading to T-cell proliferation, cytokine production and differentiation into effector cells. More...
hsa05142	Chagas disease (American trypanosomiasis)	23	Trypanosoma cruzi is an intracellular protozoan parasite tha...... Trypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they invade diverse host cells including cardiomyocytes. Establishment of infection depends on various parasite molecules such as cruzipain, oligopeptidase B, and trans-sialidase that activate Ca2+ signaling. Internalized parasites escape from the parasitophorous vacuole using secreted pore-forming TcTOX molecule and replicate in the cytosol. Multiplied parasites eventually lyse infected host cells and are released in the circulation. During these events, the parasites manipulate host innate immunity and elicit cardiomyocyte hypertrophy. T lymphocyte responses are also disturbed. More...
hsa05162	Measles	20	Measles virus (MV) is highly contagious virus that leads inf...... Measles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacterial infections. Several MV proteins have been suggested to disturb host immunity. After infection of host lymphoid cells via SLAM, MV inhibits cytokine response by direct interference with host signaling systems. Three proteins (P, V, and C) associate with Jak/STAT proteins in interferon-triggered pathway and other important proteins related to apoptosis. Interaction between MV and host brings about the shift towards a Th2 response by decreasing IL-12 production and induces lymphopenia by suppressing cell proliferation. More...

Genes shared at least 5 GO terms with CD3E (count: 16)

Gene Symbol	Pathway Count	Pathway List
CD3G	15	T cell costimulation; regulation of immune response; receptor signaling complex scaffold activity; T cell receptor signaling pathway; T cell receptor complex; T cell activation; alpha-beta T cell receptor complex; regulation of apoptotic process; cell surface receptor signaling pathway; T cell receptor binding; protein heterodimerization activity; transmembrane signaling receptor activity; plasma membrane; integral to plasma membrane; protein complex assembly;
CD3D	9	T cell costimulation; regulation of immune response; T cell receptor signaling pathway; T cell receptor complex; alpha-beta T cell receptor complex; cell surface receptor signaling pathway; protein heterodimerization activity; transmembrane signaling receptor activity; plasma membrane;
SPN	8	T cell costimulation; positive regulation of T cell proliferation; cell surface receptor signaling pathway; negative thymic T cell selection; external side of plasma membrane; transmembrane signaling receptor activity; plasma membrane; integral to plasma membrane;
ITGAL	6	positive regulation of calcium-mediated signaling; regulation of immune response; positive regulation of T cell proliferation; external side of plasma membrane; immunological synapse; plasma membrane;
SYK	6	positive regulation of calcium-mediated signaling; T cell receptor complex; positive regulation of alpha-beta T cell proliferation; positive regulation of peptidyl-tyrosine phosphorylation; protein kinase binding; plasma membrane;
NCK1	6	receptor signaling complex scaffold activity; T cell receptor signaling pathway; positive regulation of T cell proliferation; T cell activation; signal complex assembly; plasma membrane;
BCAR1	6	T cell receptor signaling pathway; regulation of apoptotic process; G-protein coupled receptor signaling pathway; protein kinase binding; SH3 domain binding; plasma membrane;
BDKRB2	6	transmembrane receptor protein tyrosine kinase signaling pathway; cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; protein heterodimerization activity; plasma membrane; integral to plasma membrane;
CD5	5	T cell costimulation; external side of plasma membrane; transmembrane signaling receptor activity; plasma membrane; integral to plasma membrane;
HLA-DRB1	5	T cell costimulation; T cell receptor signaling pathway; external side of plasma membrane; plasma membrane; integral to plasma membrane;
THY1	5	T cell receptor signaling pathway; external side of plasma membrane; protein kinase binding; plasma membrane; integral to plasma membrane;
TLR4	5	positive regulation of interferon-gamma production; external side of plasma membrane; transmembrane signaling receptor activity; plasma membrane; integral to plasma membrane;
IL6	5	positive regulation of T cell proliferation; T cell activation; regulation of apoptotic process; external side of plasma membrane; positive regulation of peptidyl-tyrosine phosphorylation;
ERBB2	5	transmembrane receptor protein tyrosine kinase signaling pathway; cell surface receptor signaling pathway; protein heterodimerization activity; transmembrane signaling receptor activity; plasma membrane;
CCR5	5	cell surface receptor signaling pathway; G-protein coupled receptor signaling pathway; external side of plasma membrane; plasma membrane; integral to plasma membrane;
ADRA2A	5	G-protein coupled receptor signaling pathway; protein kinase binding; protein heterodimerization activity; plasma membrane; integral to plasma membrane;

Genes shared at least 2 KEGG pathways with CD3E (count: 14)

Gene Symbol	Pathway Count	Pathway List
CD3D	5	Hematopoietic cell lineage; Primary immunodeficiency; T cell receptor signaling pathway; Chagas disease (American trypanosomiasis); Measles;
CD3G	4	Hematopoietic cell lineage; T cell receptor signaling pathway; Chagas disease (American trypanosomiasis); Measles;
IL6	3	Hematopoietic cell lineage; Chagas disease (American trypanosomiasis); Measles;
PIK3CG	3	T cell receptor signaling pathway; Chagas disease (American trypanosomiasis); Measles;
PIK3R1	3	T cell receptor signaling pathway; Chagas disease (American trypanosomiasis); Measles;
RELA	3	T cell receptor signaling pathway; Chagas disease (American trypanosomiasis); Measles;
IL7R	2	Hematopoietic cell lineage; Primary immunodeficiency;
GSK3B	2	T cell receptor signaling pathway; Measles;
MAPK1	2	T cell receptor signaling pathway; Chagas disease (American trypanosomiasis);
MAPK3	2	T cell receptor signaling pathway; Chagas disease (American trypanosomiasis);
MAPK9	2	T cell receptor signaling pathway; Chagas disease (American trypanosomiasis);
IFNGR1	2	Chagas disease (American trypanosomiasis); Measles;
IL12B	2	Chagas disease (American trypanosomiasis); Measles;
TLR4	2	Chagas disease (American trypanosomiasis); Measles;

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Region: chr11:118175260..118186890 View in gBrowse